ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211217
Gene: ATP1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162465
ClinVar RCV Id:
RCV000149850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000692.2:p.Phe100_Leu104del
CA211216
NM_000701.8:c.299_313del